Literature DB >> 19889517

The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.

Vered Molho-Pessach, José Suarez, Christophe Perrin, Christine Chiaverini, Victoria Doviner, Enriqueta Tristan-Clavijo, Isabel Colmenero, Fabienne Giuliano, Antonio Torrelo, Abraham Zlotogorski.   

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Year:  2009        PMID： 19889517     DOI： 10.1016/j.jdermsci.2009.09.011

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  6 in total

1.  Variability in the Manifestations and Evolution of Symptoms in a Patient with H Syndrome.

Authors:  Ruma Deshpande; Lavanya Parthasarathy; Ashwin Dalal; Vaman Khadilkar; Anuradha Khadilkar
Journal:  Indian J Pediatr       Date:  2015-05-14       Impact factor: 1.967

2.  Accelerated coronary atherosclerosis and H syndrome.

Authors:  Ravindranath K Shankarappa; Rajiv Ananthakrishna; Ravi S Math; Sachin Dhareppa Yalagudri; Satish Karur; Ramesh Dwarakaprasad; Manjunath C Nanjappa; Vered Molho-Pessach
Journal:  BMJ Case Rep       Date:  2011-10-04

3.  H syndrome: 5 new cases from the United States with novel features and responses to therapy.

Authors:  Jessica L Bloom; Clara Lin; Lisa Imundo; Stephen Guthery; Shelly Stepenaskie; Csaba Galambos; Amy Lowichik; John F Bohnsack
Journal:  Pediatr Rheumatol Online J       Date:  2017-10-17       Impact factor: 3.054

4.  The histopathology and phenotypic variability in H syndrome.

Authors:  David Dias-Polak; Margarita Indelman; Reuven Bergman; Emily Avitan-Hersh
Journal:  Clin Case Rep       Date:  2018-01-25

Review 5.  A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.

Authors:  Sadaf Noavar; Samira Behroozi; Taraneh Tatarcheh; Farshid Parvini; Majid Foroutan; Hossein Fahimi
Journal:  BMC Med Genet       Date:  2019-08-29       Impact factor: 2.103

6.  Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.

Authors:  Hamza Chouk; Mohamed Ben Rejeb; Lobna Boussofara; Haїfa Elmabrouk; Najet Ghariani; Badreddine Sriha; Ali Saad; Dorra H'Mida; Mohamed Denguezli
Journal:  Hum Genomics       Date:  2021-10-17       Impact factor: 4.639
  6 in total

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